KNG1
kininogen 1
Summary
This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reduces or depletes angiotensin converting enzyme 2 (ACE2), which results in an increase in levels of des-Arg(9)-bradykinin, a bioactive metabolite of bradykinin that is associated with lung injury and inflammation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2020]
Known Variants84 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3774292 | 3:186,433,574 | A/C | — | — |
| rs10440056 | 3:186,433,822 | C/A | — | — |
| rs10439970 | 3:186,433,932 | T/C | — | — |
| rs10440057 | 3:186,434,108 | G/C | — | — |
| rs188096067 | 3:186,434,478 | C/G | upstream gene variant | — |
| rs3806688 | 3:186,434,819 | T/C | upstream gene variant | — |
| rs1579107719 | 3:186,435,247 | T/A | — | not provided |
| rs145533184 | 3:186,435,401 | G/A | — | uncertain significance |
| rs375059182 | 3:186,435,458 | A/C | — | uncertain significance |
| rs766858471 | 3:186,435,462 | A/G | — | uncertain significance |
| rs199608267 | 3:186,435,490 | G/A | — | likely benign |
| rs755247533 | 3:186,435,493 | T/G | — | uncertain significance |
| rs186409594 | 3:186,435,497 | T/G | — | uncertain significance |
| rs13095338 | 3:186,435,583 | T/C | intron variant | — |
| rs1851665 | 3:186,436,398 | A/C | — | — |
| rs5029980 | 3:186,437,944 | T/C | — | benign |
| rs2473875619 | 3:186,438,006 | T/A | — | pathogenic |
| rs2689197 | 3:186,438,346 | C/T | regulatory region variant | — |
| rs2473879097 | 3:186,440,229 | A/T | — | uncertain significance |
| rs772710707 | 3:186,440,242 | C/T | — | uncertain significance |
| rs1469859 | 3:186,440,243 | G/A | — | benign |
| rs369421808 | 3:186,440,269 | C/T | — | likely benign |
| rs777284943 | 3:186,440,293 | C/A | — | uncertain significance |
| rs770609186 | 3:186,440,302 | T/G | — | uncertain significance |
| rs1656915 | 3:186,441,823 | A/T | — | — |
| rs1579116763 | 3:186,442,906 | G/A | — | likely benign |
| rs2108623061 | 3:186,442,945 | C/G | — | uncertain significance |
| rs1175564740 | 3:186,442,973 | G/A | — | uncertain significance |
| rs121918131 | 3:186,445,047 | C/T | stop gained | pathogenic |
| rs144123648 | 3:186,445,048 | G/A | — | uncertain significance |
| rs2304456 | 3:186,445,052 | G/T | — | benign |
| rs763535326 | 3:186,445,107 | C/G | — | uncertain significance |
| rs191031542 | 3:186,446,737 | C/T | intron variant | — |
| rs185528245 | 3:186,446,854 | A/G | intron variant | — |
| rs5030035 | 3:186,447,525 | G/A | intron variant | — |
| rs5030044 | 3:186,449,122 | A/C | — | — |
| rs920752561 | 3:186,449,340 | G/A | — | uncertain significance |
| rs749586628 | 3:186,449,364 | A/G | — | likely benign |
| rs760423241 | 3:186,449,372 | T/G | — | uncertain significance |
| rs761496908 | 3:186,449,379 | C/T | — | pathogenic |
| rs2473896827 | 3:186,449,388 | T/G | — | uncertain significance |
| rs201005798 | 3:186,449,408 | C/T | — | likely benign |
| rs150340694 | 3:186,449,421 | A/G | — | likely benign |
| rs535353637 | 3:186,450,429 | T/G | — | uncertain significance |
| rs147552487 | 3:186,450,441 | A/G | — | uncertain significance |
| rs1184307497 | 3:186,450,444 | T/A | — | uncertain significance |
| rs5030049 | 3:186,450,863 | T/C | intron variant | — |
| rs4686799 | 3:186,451,236 | T/C | intron variant | — |
| rs710448 | 3:186,452,885 | A/G | intron variant | — |
| rs5030062 | 3:186,454,180 | A/C | intron variant | — |
| rs1290896020 | 3:186,456,892 | T/G | — | uncertain significance |
| rs773371665 | 3:186,456,943 | C/G | — | uncertain significance |
| rs200633184 | 3:186,456,969 | G/A | — | uncertain significance |
| rs377594184 | 3:186,456,996 | G/A | — | pathogenic |
| rs567819050 | 3:186,457,131 | C/T | — | likely benign |
| rs1301491890 | 3:186,457,148 | T/A | — | uncertain significance |
| rs762183606 | 3:186,457,184 | A/G | — | uncertain significance |
| rs5030081 | 3:186,458,910 | G/A | downstream gene variant | — |
| rs5030082 | 3:186,458,949 | A/T | — | — |
| rs698078 | 3:186,459,227 | A/G | downstream gene variant | — |
| rs765933558 | 3:186,459,321 | T/A | — | pathogenic |
| rs752411996 | 3:186,459,350 | C/T | — | pathogenic |
| rs1579131839 | 3:186,459,351 | G/T | — | uncertain significance |
| rs756118024 | 3:186,459,356 | T/C | — | uncertain significance |
| rs2473913205 | 3:186,459,374 | A/G | — | uncertain significance |
| rs1401295926 | 3:186,459,387 | C/T | — | uncertain significance |
| rs371621629 | 3:186,459,389 | G/A | — | uncertain significance |
| rs553330895 | 3:186,459,419 | G/A | — | uncertain significance |
| rs767631674 | 3:186,459,439 | T/C | — | likely benign |
| rs376768110 | 3:186,459,465 | G/A | — | likely benign |
| rs200055961 | 3:186,459,530 | C/T | — | uncertain significance |
| rs377185225 | 3:186,459,589 | G/C | — | uncertain significance |
| rs746688936 | 3:186,459,594 | G/T | — | uncertain significance |
| rs1188797150 | 3:186,459,615 | T/G | — | uncertain significance |
| rs1396227479 | 3:186,459,616 | C/T | — | likely benign |
| rs5030085 | 3:186,459,646 | A/G | — | benign |
| rs5030086 | 3:186,459,775 | C/T | — | benign |
| rs2473914097 | 3:186,459,803 | G/A | — | uncertain significance |
| rs1369253342 | 3:186,459,905 | C/G | — | pathogenic |
| rs710446 | 3:186,459,927 | T/C | missense variant | — |
| rs2473914596 | 3:186,459,995 | T/A | — | uncertain significance |
| rs760191886 | 3:186,460,031 | G/A | — | uncertain significance |
| rs76438938 | 3:186,461,524 | T/C | — | benign |
| rs751371016 | 3:186,461,548 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.